Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurogenetics Research; Murdoch Childrens Research Institute | RCV000144685 | SCV000190018 | pathogenic | not provided | criteria provided, single submitter | not provided | Converted during submission to Pathogenic. | |
OMIM | RCV000150034 | SCV000196892 | pathogenic | Early-onset parkinsonism-intellectual disability syndrome | 2014-12-04 | no assertion criteria provided | literature only |